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1.

001-es BibID:BIBFORM065343
Első szerző:Bán Zoltán (nőgyógyász)
Cím:Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy / Zoltan Bán, Bálint Nagy, Csaba Papp, Ernő Tóth-Pál, Zoltán Papp
Dátum:2002
ISSN:0197-3851
Megjegyzések:OBJECTIVES:Triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of abnormal ultrasound findings. We planned to test for the most common chromosomal abnormalities.METHODS:We performed ultrasound examination, chorionic villus sampling, karyotyping and fluorescent-polymerase chain reaction (F-PCR) and fragment analysis.RESULTS:We diagnosed a 69,XXX karyotype fetus in the 31st week of gestation, based on a short tandem repeat (STR) pattern typical for triploidy, which was confirmed by karyotyping. The comparison of the fetal and parental STR patterns showed maternal origin of the extra haploid chromosome set.CONCLUSIONS:STR analysis of fluorescent-PCR and DNA fragment analysis is a rapid and reliable alternative to karyotyping for detection of certain aneuploidies. The method is also suitable for the determination of the origin of the extra chromosome set.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
prenatal
F-PCR
triploidy
diagnosis
rapid
Megjelenés:Prenatal Diagnosis. - 22 (2002), p. 984-987. -
További szerzők:Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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2.

001-es BibID:BIBFORM074849
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Detection of Toxoplasma gondii from amniotic fluid, a comparison of four different molecular biological methods / Bálint Nagy, Zoltán Bán, Artúr Beke, Gyula Richard Nagy, Levente Lázár, Csaba Papp, Ernő Tóth-Pál, Zoltán Papp
Dátum:2006
ISSN:0009-8981
Megjegyzések:BACKGROUND:The infection caused by the parasite Toxoplasma gondii (T. gondii) is often asymptomatic or has mild symptoms. The infection can cause serious problems in pregnant women who acquire the infection during gestation and their fetuses are congenitally infected.METHODS:We tested 64 amniotic fluid samples for the presence of T. gondii by using fluorescent PCR and DNA fragment analysis. Later we compared four different molecular biological methods for the detection of the presence of T. gondii on same frozen DNA samples. These methods are the conventional PCR, fluorescent PCR with DNA fragment analysis, quantitative real-time PCR with SYBRGreen I and with fluorescence energy transfer hybridization probe detection. We determined the detection limit of these methods.RESULTS:The conventional PCR and quantitative real-time PCR with SYBRGreen I detection have the detection limit of 1000 parasites, followed by fluorescent PCR with the detection limit of 10-100 parasites. The real-time PCR using fluorescence energy transfer hybridization probes can detect one parasite. This is the most sensitive and the fastest method. We detected 5 T. gondii positive samples with all methods from the studied 64 amniotic fluids.CONCLUSIONS:All studied molecular biological methods are suitable for the detection of congenital toxoplasmosis. The quantitative real-time PCR based methods are more sensitive, simple and easy to perform these are opening the avenue to find out the effect of the number of parasites on fetal abnormalities.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Toxoplasma gondii
amniotic fluid
molecular biology
Megjelenés:Clinica Chimica Acta. - 368 : 1-2 (2006), p. 131-137. -
További szerzők:Bán Zoltán (nőgyógyász) Beke Artúr (szülész-nőgyógyász) Nagy Gyula Richárd (szülész-nőgyógyász) Lázár Levente (szülész-nőgyógyász) Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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DOI
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3.

001-es BibID:BIBFORM073613
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Apolipoprotein E Allele Distribution in Trisomy 13, 18, and 21 Conceptuses in a Hungarian Population / Bálint Nagy, Zoltán Bán, Ernö Tóth-Pál, Csaba Papp, Lou Fintor, Zoltán Papp
Dátum:2000
ISSN:0002-9173
Megjegyzések:Reports documented a higher frequency of apolipoprotein E (apoE) allele epsilon 4 among mothers of children diagnosed with Down syndrome. We studied the prevalence of apoE alleles among 56 conceptuses with trisomy 13, trisomy 18, or trisomy 21. The presence of the 3 most common apoE alleles (epsilon 2, epsilon 3, epsilon 4) was determined by polymerase chain reaction-restriction fragment length polymorphism, and trisomy status was detected by fluorescent polymerase chain reaction followed by DNA fragment analysis and by conventional cytologic methods. We found no significant difference in the distribution of apoE alleles in the group of trisomy 21 fetuses compared with samples from healthy blood donors. The odds of having trisomy 18 for the apoE epsilon 4 group was 3-fold as high as for apoE epsilon 3 allele compared with the healthy control group. Furthermore, a statistically significant association was found for those with trisomy 18 and apoE epsilon 4, while for those with trisomy 13 and apoE epsilon 4, the test showed no significant association. The observed apoE allele epsilon 3 frequencies among patients with Down syndrome and healthy control subjects may help explain and support previous work that did not find high rates of atherosclerosis among these persons. The role of apoE alleles in the development of trisomies needs further study.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
apolopoprotein E
preeclampsia
alleles
Megjelenés:American Journal of Clinical Pathology. - 113 : 4 (2000), p. 535-538. -
További szerzők:Bán Zoltán (nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Csaba (1966-) (aneszteziológus és intenzív terápiás szakorvos) Fintor, Lou Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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4.

001-es BibID:BIBFORM065327
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci / Balint Nagy, Zoltán Bán, Levente Lázár, Richárd Gyula Nagy, Csaba Papp, Ernő Tóth-Pál, Zoltan Papp
Dátum:2005
ISSN:0197-3851
Megjegyzések:OBJECTIVES: Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 detection was described recently. We studied the reliability of this method on a cohort of samples of Hungarian patients. METHODS: DNA was isolated with silica adsorption method from amniotic fluid cells. We investigated 67 trisomy 21 and 62 diploid samples in the study. Quantitative real-time PCR was performed using hybridization probes combined with melting curve analysis. Peak areas under the derivative curves were determined and analyzed. RESULTS: The SNP marker WIAF 899 was informative in 41.86% of cases and WIAF 2643 in 48.83%. The melting curve area ratios were significantly different between trisomic and normal cases for WIAF 899 (trisomic 0.5246 +/- 0.2498 vs 0.8347 +/- 0.5234; p < 0.001), while in the case of WIAF 2643, they were not different. CONCLUSION: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Trisomy21
amniotic fluid
SNP
determination
rapid
Megjelenés:Prenatal Diagnosis. - 25 : 12 (2005), p. 1138-1141. -
További szerzők:Bán Zoltán (nőgyógyász) Lázár Levente (szülész-nőgyógyász) Nagy Richárd Gyula Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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5.

001-es BibID:BIBFORM065366
Első szerző:Tóth Tamás (gyermekgyógyász)
Cím:Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction / Tóth T., Findlay I., Papp C., Tóth-Pál E., Marton T., Nagy B., Quirke P., Papp Z.
Dátum:1998
ISSN:0197-3851
Megjegyzések:Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
trisomy 13
amniotic fluid
quantitative
fluorescent
PCR
Megjelenés:Prenatal Diagnosis. - 18 (1998), p. 669-674. -
További szerzők:Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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6.

001-es BibID:BIBFORM065365
Első szerző:Tóth Tamás (gyermekgyógyász)
Cím:Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. / Tamas Toth, Ian Findlay, Csaba Papp, Ernő Toth-Pal, Tamas Marton, Balint Nagy, Philip Quirke, Zoltan Papp
Dátum:1998
ISSN:0022-2593
Megjegyzések:Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
trisomy 18
trisomy 21
quantitative
fluorescent
PCR
Megjelenés:Journal Of Medical Genetics. - 35 (1998), p. 126-129. -
További szerzők:Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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7.

001-es BibID:BIBFORM074855
Cím:Pre- and perinatal relations of hemophilia A and B / Artúr Beke, Zoltán Bán, Bálint Nagy, Ernő Tóth-Pál, Csaba Papp, Ákos Csaba, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period.METHODS:In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers).RESULTS:In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis).CONCLUSIONS:In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
haemophilia a and b
prenatal
perinatal
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 1 (2003), p. 17-25. -
További szerzők:Beke Artúr (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Tóth-Pál Ernő (nőgyógyász) Papp Csaba (szülész-nőgyógyász) Csaba Ákos (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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8.

001-es BibID:BIBFORM074856
Cím:Recurrent trisomy 21 and uniparental disomy 21 in a family / Zoltán Bán, Bálint Nagy, Csaba Papp, Artúr Beke, Ernő Tóth-Pál, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus.METHODS:Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21.RESULTS:Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD).CONCLUSIONS:Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Trisomy 21
uniparental disomy
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 6 (2003), p. 454-458. -
További szerzők:Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Beke Artúr (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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